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Introduction Gaucher disease (GD), a lysosomal storage disorder, results from the accumulation of glycosphingolipids due to deficient lysosomal glucocerebrosidase activity (1). GD arises from biallelic mutations in the glucosylceramidase β1 (GBA1) gene, resulting in defective acid β-glucosidase activity and the lysosomal accumulation of glucosylcer
Gaucher Disease (GD) With Elevated GlcSph Levels: A Case of Transition to Eliglustat

Gaucher Disease (GD) With Elevated GlcSph Levels: A Case of Transition to Eliglustat

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